UTRN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic
Select item 153365	GRCh38/hg38 6q24.2(chr6:143618974-144413183)x3	HYMAI, LOC113146422 +45 more	Copy number gain	See cases	GPathogenic
Select item 1256854	NM_007124.3(UTRN):c.-92-204T>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275590	NM_007124.3(UTRN):c.-1G>A	UTRN	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1248204	NM_007124.3(UTRN):c.79+294C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151062	GRCh38/hg38 6q24.2(chr6:144418941-144485393)x3	LOC126859819, LOC129997378 +2 more	Copy number gain	See cases	GUncertain significance
Select item 146169	GRCh38/hg38 6q24.2(chr6:144418941-144464407)x3	LOC129997378, LOC132089372 +1 more	Copy number gain	See cases	GLikely benign
Select item 2291848	NM_007124.3(UTRN):c.166A>G (p.Met56Val)	UTRN (M56V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215503	NM_007124.3(UTRN):c.168G>A (p.Met56Ile)	UTRN (M56I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2220628	NM_007124.3(UTRN):c.173C>T (p.Thr58Ile)	UTRN (T58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223653	NM_007124.3(UTRN):c.302A>T (p.His101Leu)	UTRN (H101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360947	NM_007124.3(UTRN):c.341A>G (p.Asp114Gly)	UTRN (D114G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298206	NM_007124.3(UTRN):c.362A>G (p.Lys121Arg)	UTRN (K121R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 517721	NM_007124.3(UTRN):c.405+3G>A	UTRN	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2310001	NM_007124.3(UTRN):c.466C>G (p.Leu156Val)	UTRN (L156V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272029	NM_007124.3(UTRN):c.572G>A (p.Arg191Gln)	UTRN (R191Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329092	NM_007124.3(UTRN):c.585T>A (p.Asp195Glu)	UTRN (D195E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733657	NM_007124.3(UTRN):c.687T>C (p.Asp229=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2291849	NM_007124.3(UTRN):c.790C>T (p.Arg264Cys)	UTRN (R264C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355593	NM_007124.3(UTRN):c.851T>C (p.Ile284Thr)	UTRN (I284T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1239528	NM_007124.3(UTRN):c.855+193G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249127	NM_007124.3(UTRN):c.856-205A>C	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2508648	NM_007124.3(UTRN):c.964C>A (p.Leu322Met)	UTRN (L322M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791267	NM_007124.3(UTRN):c.964C>T (p.Leu322=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2511261	NM_007124.3(UTRN):c.1021G>A (p.Asp341Asn)	UTRN (D341N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261069	NM_007124.3(UTRN):c.1036A>G (p.Lys346Glu)	UTRN (K346E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468281	NM_007124.3(UTRN):c.1086C>G (p.His362Gln)	UTRN (H362Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1259121	NM_007124.3(UTRN):c.1158A>G (p.Glu386=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2275816	NM_007124.3(UTRN):c.1223G>A (p.Ser408Asn)	UTRN (S408N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1231143	NM_007124.3(UTRN):c.1241+247A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2333979	NM_007124.3(UTRN):c.1342C>T (p.Pro448Ser)	UTRN (P448S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1227624	NM_007124.3(UTRN):c.1393-105A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277196	NM_007124.3(UTRN):c.1393-59G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2376792	NM_007124.3(UTRN):c.1447A>C (p.Met483Leu)	UTRN (M483L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1241209	NM_007124.3(UTRN):c.1513-11C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2228076	NM_007124.3(UTRN):c.1543C>T (p.Arg515Cys)	UTRN (R515C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536897	NM_007124.3(UTRN):c.1552G>C (p.Glu518Gln)	UTRN (E518Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365475	NM_007124.3(UTRN):c.1558C>T (p.Arg520Cys)	UTRN (R520C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246835	NM_007124.3(UTRN):c.1620G>T (p.Leu540Phe)	UTRN (L540F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287643	NM_007124.3(UTRN):c.1786G>A (p.Asp596Asn)	UTRN (D596N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1230002	NM_007124.3(UTRN):c.1902+186A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2597407	NM_007124.3(UTRN):c.1953C>A (p.Asp651Glu)	UTRN (D651E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299770	NM_007124.3(UTRN):c.1954C>A (p.Leu652Ile)	UTRN (L652I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348733	NM_007124.3(UTRN):c.1987A>G (p.Ile663Val)	UTRN (I663V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402926	NM_007124.3(UTRN):c.1991C>G (p.Thr664Arg)	UTRN (T664R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459639	NM_007124.3(UTRN):c.2020C>A (p.Pro674Thr)	UTRN (P674T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2206347	NM_007124.3(UTRN):c.2078A>G (p.Asp693Gly)	UTRN (D693G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213405	NM_007124.3(UTRN):c.2125G>A (p.Ala709Thr)	UTRN (A709T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1268374	NM_007124.3(UTRN):c.2196+196T>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733691	NM_007124.3(UTRN):c.2197-4G>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2292123	NM_007124.3(UTRN):c.2210A>C (p.Glu737Ala)	UTRN (E737A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476575	NM_007124.3(UTRN):c.2299G>A (p.Glu767Lys)	UTRN (E767K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252670	NM_007124.3(UTRN):c.2305A>G (p.Ile769Val)	UTRN (I769V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348434	NM_007124.3(UTRN):c.2311A>C (p.Asn771His)	UTRN (N771H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780649	NM_007124.3(UTRN):c.2337A>G (p.Glu779=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2594125	NM_007124.3(UTRN):c.2374A>G (p.Arg792Gly)	UTRN (R792G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396972	NM_007124.3(UTRN):c.2449A>G (p.Lys817Glu)	UTRN (K817E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217288	NM_007124.3(UTRN):c.2491C>T (p.Arg831Trp)	UTRN (R831W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2353922	NM_007124.3(UTRN):c.2527C>T (p.Arg843Trp)	UTRN (R843W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710329	NM_007124.3(UTRN):c.2539A>C (p.Asn847His)	UTRN (N847H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2290854	NM_007124.3(UTRN):c.2651G>A (p.Gly884Asp)	UTRN (G884D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771867	NM_007124.3(UTRN):c.2654G>A (p.Arg885His)	UTRN (R885H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2540317	NM_007124.3(UTRN):c.2696A>G (p.His899Arg)	UTRN (H899R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 778924	NM_007124.3(UTRN):c.2746T>C (p.Leu916=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2531792	NM_007124.3(UTRN):c.2774A>T (p.Asp925Val)	UTRN (D925V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 724092	NM_007124.3(UTRN):c.2837C>T (p.Ala946Val)	UTRN (A946V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2327400	NM_007124.3(UTRN):c.2903C>G (p.Ala968Gly)	UTRN (A968G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472765	NM_007124.3(UTRN):c.2912C>T (p.Thr971Ile)	UTRN (T971I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1290712	NM_007124.3(UTRN):c.3067-71C>T	LOC126859819, UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2328233	NM_007124.3(UTRN):c.3067G>A (p.Ala1023Thr)	LOC126859819, UTRN (A1023T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 723484	NM_007124.3(UTRN):c.3139G>A (p.Gly1047Arg)	LOC126859819, UTRN (G1047R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2363142	NM_007124.3(UTRN):c.3152G>A (p.Gly1051Asp)	LOC126859819, UTRN (G1051D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 764083	NM_007124.3(UTRN):c.3180+9T>G	LOC126859819, UTRN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2249373	NM_007124.3(UTRN):c.3220A>G (p.Lys1074Glu)	UTRN (K1074E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338880	NM_007124.3(UTRN):c.3256G>A (p.Gly1086Ser)	UTRN (G1086S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316981	NM_007124.3(UTRN):c.3283G>T (p.Val1095Leu)	UTRN (V1095L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462480	NM_007124.3(UTRN):c.3323A>C (p.Lys1108Thr)	UTRN (K1108T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1250958	NM_007124.3(UTRN):c.3336+150A>G	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227770	NM_007124.3(UTRN):c.3337-252G>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2284506	NM_007124.3(UTRN):c.3398A>G (p.Asp1133Gly)	UTRN (D1133G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 780664	NM_007124.3(UTRN):c.3399C>T (p.Asp1133=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2410322	NM_007124.3(UTRN):c.3451C>T (p.Arg1151Trp)	UTRN (R1151W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262492	NM_007124.3(UTRN):c.3454G>A (p.Asp1152Asn)	UTRN (D1152N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257882	NM_007124.3(UTRN):c.3687+23G>A	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 782842	NM_007124.3(UTRN):c.3771G>A (p.Lys1257=)	UTRN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1235287	NM_007124.3(UTRN):c.3822+36C>T	UTRN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2348622	NM_007124.3(UTRN):c.3842G>A (p.Arg1281His)	UTRN (R1281H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410365	NM_007124.3(UTRN):c.3860G>A (p.Arg1287His)	UTRN (R1287H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358668	NM_007124.3(UTRN):c.3952T>C (p.Tyr1318His)	UTRN (Y1318H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514481	NM_007124.3(UTRN):c.4012G>A (p.Val1338Met)	UTRN (V1338M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553737	NM_007124.3(UTRN):c.4117G>A (p.Val1373Ile)	UTRN (V1373I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064920	NM_007124.3(UTRN):c.4134+1G>A	UTRN	Single nucleotide variant (splice donor variant)	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2235087	NM_007124.3(UTRN):c.4163A>G (p.Glu1388Gly)	UTRN (E1388G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383186	NM_007124.3(UTRN):c.4196G>A (p.Arg1399His)	UTRN (R1399H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 773202	NM_007124.3(UTRN):c.4247A>G (p.Gln1416Arg)	UTRN (Q1416R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2520443	NM_007124.3(UTRN):c.4297C>T (p.Leu1433Phe)	UTRN (L1433F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401934	NM_007124.3(UTRN):c.4327C>T (p.Arg1443Cys)	UTRN (R1443C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356061	NM_007124.3(UTRN):c.4328G>A (p.Arg1443His)	UTRN (R1443H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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